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  • 1-10 ل  67 نتائج ل ""Genomic Structural Variation""
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Academic Journal

VISTA: an integrated framework for structural variant discovery.

  • Authors : Sarwal V; Department of Computer Science, University of California Los Angeles, 580 Portola Plaza, Los Angeles, CA 90095, United States.; Lee S

Subjects: Genomic Structural Variation* ; Genome, Human* ; Software*

  • Source: Briefings in bioinformatics [Brief Bioinform] 2024 Jul 25; Vol. 25 (5).Publisher: Oxford University Press Country of Publication: England NLM ID: 100912837 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Improving structural variant clustering to reduce the negative effect of the breakpoint uncertainty problem.

  • Authors : Geryk J; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and University Hospital Motol, V Úvalu 84, 15006, Prague, Czech Republic. .; Department of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Albertov 4, 128 00, Prague, Czech Republic. .

Subjects: Genome, Human* ; Genomic Structural Variation*; Cluster Analysis

  • Source: BMC bioinformatics [BMC Bioinformatics] 2021 Sep 27; Vol. 22 (1), pp. 464. Date of Electronic Publication: 2021 Sep 27.Publisher: BioMed Central Country of Publication: England NLM ID: 100965194 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2105

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Academic Journal

Whole-genome sequencing with long reads reveals complex structure and origin of structural variation in human genetic variations and somatic mutations in cancer.

  • Authors : Fujimoto A; Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan. .; Department of Drug Discovery Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan. .

Subjects: Genome, Human* ; Genomic Structural Variation* ; Whole Genome Sequencing*

  • Source: Genome medicine [Genome Med] 2021 Apr 29; Vol. 13 (1), pp. 65. Date of Electronic Publication: 2021 Apr 29.Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X

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Academic Journal

Long-Read Sequencing Improves the Detection of Structural Variations Impacting Complex Non-Coding Elements of the Genome.

  • Authors : Begum G; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai 505055, United Arab Emirates.; Albanna A

Subjects: Genome, Human* ; Genomic Structural Variation* ; High-Throughput Nucleotide Sequencing*

  • Source: International journal of molecular sciences [Int J Mol Sci] 2021 Feb 19; Vol. 22 (4). Date of Electronic Publication: 2021 Feb 19.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

nanotatoR: a tool for enhanced annotation of genomic structural variants.

  • Authors : Bhattacharya S; Center for Genetic Medicine Research, Children's Research Institute, Children's National Hospital, Washington, DC, 20010, USA.; Barseghyan H

Subjects: Genome, Human* ; Genomic Structural Variation*; Genomics

  • Source: BMC genomics [BMC Genomics] 2021 Jan 06; Vol. 22 (1), pp. 10. Date of Electronic Publication: 2021 Jan 06.Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2164

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Academic Journal

A crowdsourced set of curated structural variants for the human genome.

  • Authors : Chapman LM; Biosystems and Biomaterials Division, Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, Maryland, United States of America.; Spies N

Subjects: Genome, Human* ; Genomic Structural Variation*; Heuristics

  • Source: PLoS computational biology [PLoS Comput Biol] 2020 Jun 19; Vol. 16 (6), pp. e1007933. Date of Electronic Publication: 2020 Jun 19 (Print Publication: 2020).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101238922 Publication Model: eCollection Cited Medium: Internet

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Academic Journal

Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing.

  • Authors : Sanchis-Juan A; Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Cambridge, CB2 0PT, UK.; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK.

Subjects: Genome, Human* ; Genomic Structural Variation*; Cell Cycle Proteins/Cell Cycle Proteins/Cell Cycle Proteins/genetics

  • Source: Genome medicine [Genome Med] 2018 Dec 07; Vol. 10 (1), pp. 95. Date of Electronic Publication: 2018 Dec 07.Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X

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Academic Journal

Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis.

  • Authors : Barseghyan H; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, 90095, USA.; Center for Genetic Medicine Research, Children's National Health System, Children's Research Institute, Washington, DC, 20010, USA.

Subjects: Chromosome Mapping* ; Genome, Human* ; Genomic Structural Variation*

  • Source: Genome medicine [Genome Med] 2017 Oct 25; Vol. 9 (1), pp. 90. Date of Electronic Publication: 2017 Oct 25.Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X

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Academic Journal

Virus-derived variation in diverse human genomes.

  • Authors : Kojima S; Genome Immunobiology RIKEN Hakubi Research Team, RIKEN Center for Integrative Medical Sciences and RIKEN Cluster for Pioneering Research, Yokohama, Japan.; Kamada AJ

Subjects: Genome, Human/Genome, Human/Genome, Human/*genetics ; Genomic Structural Variation/Genomic Structural Variation/Genomic Structural Variation/*genetics ; Host-Pathogen Interactions/Host-Pathogen Interactions/Host-Pathogen Interactions/*genetics Squirrel monkey retrovirus

  • Source: PLoS genetics [PLoS Genet] 2021 Apr 26; Vol. 17 (4), pp. e1009324. Date of Electronic Publication: 2021 Apr 26 (Print Publication: 2021).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet

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Academic Journal

De novo genome assembly of a Han Chinese male and genome-wide detection of structural variants using Oxford Nanopore sequencing.

  • Authors : Cai R; National Research Institute for Family Planning, Beijing, 100081, China.; National Human Genetic Resources Center, Beijing, 102206, China.

Subjects: Nanopore Sequencing*; Chromosomes/Chromosomes/Chromosomes/*genetics ; Genome, Human/Genome, Human/Genome, Human/*genetics

  • Source: Molecular genetics and genomics : MGG [Mol Genet Genomics] 2020 Jul; Vol. 295 (4), pp. 871-876. Date of Electronic Publication: 2020 Apr 09.Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 101093320 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 ل  67 نتائج ل ""Genomic Structural Variation""